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U.S. Genome Variation Estimates

CAT Allele and Genotype Frequencies

Available polymorphism(s)

Common Designations

rs number

Nucleotide changeAmino acid change

Genotyping method

rs769214

-843A>GTaqMan

Allele and Genotype Frequencies for Subpopulations


By Race/Ethnicity

VariantRace-ethnicityAllele
% (95% CI)
Chi-square
P-value†
Genotype
% (95% CI)
Chi-square
P-value†
HW
P-value‡
rs769214AGAAAGGG
Non-Hispanic White66.1 (63.4, 68.7)33.9 (31.3, 36.6)<0.00143.6 (40.0, 47.2)45.0 (42.5, 47.6)11.4 (9.4, 13.7)<0.0010.68
Non-Hispanic Black58.8 (57.0, 60.6)41.2 (39.4, 43.0)35.0 (32.5, 37.6)47.6 (44.8, 50.3)17.4 (15.6, 19.4)0.82
Mexican American49.7 (48.8, 50.6)50.3 (49.4, 51.2)24.0 (22.0, 26.1)51.5 (47.4, 55.5)24.6 (22.3, 27.0)0.32
Total*62.4 (60.0, 64.7)37.6 (35.3, 40.0)39.5 (36.3, 42.7)45.8 (43.4, 48.2)14.8 (13.0, 16.7)

* Includes all U.S. race/ethnic groups.
† “other" race/ethnicity category was not included in chi-square tests.
‡ P-values from unweighted chi-square goodness-of-fit tests to test for deviations from Hardy-Weinberg (HW) proportions.

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By Age*

VariantAge (years)Allele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs769214AGAAAGGG
12-1963.4 (59.0, 67.5)36.6 (32.5, 41.0)0.49839.5 (34.3, 44.9)47.8 (43.7, 51.9)12.7 (9.2, 17.2)0.145
20-3961.0 (57.6, 64.3)39.0 (35.7, 42.4)38.4 (33.0, 44.2)45.1 (39.9, 50.5)16.4 (14.3, 18.8)
40-5962.6 (57.6, 67.3)37.4 (32.7, 42.4)39.1 (33.0, 45.6)46.9 (42.3, 51.6)14.0 (10.3, 18.7)
>=6064.0 (62.1, 65.9)36.0 (34.1, 37.9)42.0 (39.2, 44.9)44.0 (41.5, 46.6)14.0 (12.5, 15.6)
Total62.4 (60.0, 64.7)37.6 (35.3, 40.0)39.5 (36.3, 42.7)45.8 (43.4, 48.2)14.8 (13.0, 16.7)

* Includes all participants, regardless of race/ethnicity.

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By Sex*

VariantSexAllele
% (95% CI)
Chi-square
P-value
Genotype
% (95% CI)
Chi-square
P-value
rs769214AGAAAGGG
Male63.0 (59.2, 66.7)37.0 (33.3, 40.8)0.47140.4 (35.5, 45.5)45.2 (41.1, 49.4)14.4 (11.3, 18.1)0.747
Female61.8 (59.8, 63.6)38.2 (36.4, 40.2)38.6 (35.9, 41.4)46.3 (43.7, 48.9)15.1 (13.4, 16.9)
Total62.4 (60.0, 64.7)37.6 (35.3, 40.0)39.5 (36.3, 42.7)45.8 (43.4, 48.2)14.8 (13.0, 16.7)

* Includes all participants, regardless of race/ethnicity.

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By Race/Ethnicity and Age

VariantRace-ethnicityAge (years)Allele
% (95% CI)
Genotype
% (95% CI)
rs769214AGAAAGGG
Non-Hispanic White12-1967.9 (61.6, 73.5)32.1 (26.5, 38.4)44.8 (37.2, 52.7)46.1 (40.8, 51.5)9.1 (5.2, 15.4)
20-3965.8 (61.2, 70.2)34.2 (29.8, 38.8)43.8 (36.7, 51.2)44.0 (37.5, 50.8)12.2 (9.4, 15.6)
40-5965.0 (58.9, 70.7)35.0 (29.3, 41.1)41.6 (33.9, 49.7)46.9 (41.1, 52.7)11.6 (7.5, 17.3)
>=6067.1 (65.2, 68.8)32.9 (31.2, 34.8)45.2 (42.5, 47.9)43.8 (41.1, 46.5)11.1 (9.5, 12.8)
Non-Hispanic Black12-1958.3 (55.7, 60.8)41.7 (39.2, 44.3)31.8 (27.1, 36.8)53.0 (46.0, 59.8)15.2 (11.9, 19.3)
20-3958.2 (55.4, 61.0)41.8 (39.0, 44.6)34.9 (31.9, 37.9)46.7 (43.0, 50.5)18.4 (15.0, 22.4)
40-5960.6 (56.8, 64.2)39.4 (35.8, 43.2)36.7 (31.6, 42.2)47.7 (42.5, 52.9)15.6 (12.2, 19.6)
>=6058.1 (52.9, 63.2)41.9 (36.8, 47.1)36.8 (30.1, 44.1)42.6 (36.0, 49.6)20.5 (15.8, 26.2)
Mexican American12-1951.5 (48.0, 55.1)48.5 (44.9, 52.0)23.6 (17.6, 30.8)55.9 (47.8, 63.7)20.5 (17.1, 24.4)
20-3949.6 (47.5, 51.7)50.4 (48.3, 52.5)23.6 (20.0, 27.5)52.1 (46.4, 57.7)24.3 (21.2, 27.8)
40-5948.1 (43.8, 52.4)51.9 (47.6, 56.2)24.6 (19.5, 30.4)47.0 (40.4, 53.8)28.4 (23.2, 34.3)
>=6050.1 (45.6, 54.7)49.9 (45.3, 54.4)25.9 (19.8, 33.2)48.3 (42.0, 54.7)25.7 (21.9, 30.0)

By Race/Ethnicity and Sex

VariantRace-ethnicitySexAllele
% (95% CI)
Genotype
% (95% CI)
rs769214AGAAAGGG
Non-Hispanic WhiteMale66.8 (62.7, 70.8)33.2 (29.2, 37.3)44.3 (38.7, 50.1)45.1 (40.1, 50.1)10.6 (7.6, 14.8)
Female65.4 (63.1, 67.7)34.6 (32.3, 36.9)42.9 (39.5, 46.4)45.0 (42.1, 47.9)12.1 (10.4, 14.0)
Non-Hispanic BlackMale60.3 (56.9, 63.7)39.7 (36.3, 43.1)38.0 (33.8, 42.4)44.7 (41.4, 48.0)17.4 (14.4, 20.7)
Female57.6 (55.2, 59.9)42.4 (40.1, 44.8)32.6 (29.9, 35.4)50.0 (47.0, 53.0)17.4 (14.8, 20.5)
Mexican AmericanMale49.5 (47.8, 51.2)50.5 (48.8, 52.2)24.5 (22.9, 26.2)50.0 (47.0, 53.0)25.5 (22.9, 28.3)
Female49.9 (48.1, 51.7)50.1 (48.3, 51.9)23.4 (19.6, 27.7)53.0 (46.9, 59.1)23.6 (20.7, 26.6)

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